| 8581999 | CV116451 | single nucleotide variant | NM_001526.3(HCRTR2):c.-2076G>T | Lung cancer [RCV000096974] | uncertain significance | 6 | 55172512 | 55172512 | Human | | name |
| 8582000 | CV116452 | single nucleotide variant | NM_001526.3(HCRTR2):c.223+24421T>C | Lung cancer [RCV000096975] | uncertain significance | 6 | 55199231 | 55199231 | Human | | name |
| 8582001 | CV116453 | single nucleotide variant | NM_001526.3(HCRTR2):c.224-32928T>C | Lung cancer [RCV000096976] | uncertain significance | 6 | 55215711 | 55215711 | Human | | name |
| 405294193 | CV3203552 | single nucleotide variant | NM_001384272.1(HCRTR2):c.30C>T (p.Pro10=) | HCRTR2-related disorder [RCV003934076] | likely benign | 6 | 55174617 | 55174617 | Human | | name , trait , alternate_id |
| 405256131 | CV3208697 | single nucleotide variant | NM_001384272.1(HCRTR2):c.213G>A (p.Gly71=) | HCRTR2-related disorder [RCV003939756] | likely benign | 6 | 55174800 | 55174800 | Human | | name , trait , alternate_id |
| 401754573 | CV2682231 | single nucleotide variant | NM_001384272.1(HCRTR2):c.41A>G (p.Asn14Ser) | not specified [RCV004297191] | uncertain significance | 6 | 55174628 | 55174628 | Human | | name |
| 405271987 | CV3203072 | single nucleotide variant | NM_001384272.1(HCRTR2):c.444C>T (p.Ile148=) | HCRTR2-related disorder [RCV003914122] | benign | 6 | 55255177 | 55255177 | Human | | name , trait , alternate_id |
| 405258162 | CV3208251 | single nucleotide variant | NM_001384272.1(HCRTR2):c.28C>T (p.Pro10Ser) | HCRTR2-related disorder [RCV003941685] | likely benign | 6 | 55174615 | 55174615 | Human | | name , trait , alternate_id |
| 15157843 | CV699626 | single nucleotide variant | NM_001384272.1(HCRTR2):c.846G>A (p.Thr282=) | HCRTR2-related disorder [RCV003925872]|not provided [RCV000946959] | benign | 6 | 55277463 | 55277463 | Human | | name , trait , alternate_id |
| 155967174 | CV2280268 | single nucleotide variant | NM_001384272.1(HCRTR2):c.205C>T (p.Leu69Phe) | not specified [RCV004140472] | uncertain significance | 6 | 55174792 | 55174792 | Human | | name |
| 329386731 | CV2428405 | single nucleotide variant | NM_001384272.1(HCRTR2):c.163T>C (p.Trp55Arg) | not specified [RCV004253209] | uncertain significance | 6 | 55174750 | 55174750 | Human | | name |
| 401737355 | CV2679291 | single nucleotide variant | NM_001384272.1(HCRTR2):c.158A>G (p.Tyr53Cys) | not specified [RCV004285835] | uncertain significance | 6 | 55174745 | 55174745 | Human | | name |
| 405790189 | CV3266408 | single nucleotide variant | NM_001384272.1(HCRTR2):c.179G>T (p.Gly60Val) | not specified [RCV004399418] | uncertain significance | 6 | 55174766 | 55174766 | Human | | name |
| 405790193 | CV3266409 | single nucleotide variant | NM_001384272.1(HCRTR2):c.295G>T (p.Ala99Ser) | not specified [RCV004399419] | uncertain significance | 6 | 55248710 | 55248710 | Human | | name |
| 597710233 | CV3679045 | single nucleotide variant | NM_001384272.1(HCRTR2):c.179G>C (p.Gly60Ala) | not specified [RCV004917434] | uncertain significance | 6 | 55174766 | 55174766 | Human | | name |
| 598246734 | CV3971624 | single nucleotide variant | NM_001384272.1(HCRTR2):c.257G>A (p.Arg86Lys) | not specified [RCV005345202] | uncertain significance | 6 | 55248672 | 55248672 | Human | | name |
| 598266209 | CV3971625 | single nucleotide variant | NM_001384272.1(HCRTR2):c.208A>C (p.Ile70Leu) | not specified [RCV005349225] | uncertain significance | 6 | 55174795 | 55174795 | Human | | name |
| 15162287 | CV735711 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1182C>T (p.Leu394=) | not provided [RCV000903522] | benign | 6 | 55282301 | 55282301 | Human | | name |
| 156400755 | CV2217129 | single nucleotide variant | NM_001384272.1(HCRTR2):c.547A>G (p.Ile183Val) | not specified [RCV004085801] | uncertain significance | 6 | 55255280 | 55255280 | Human | | name |
| 155987110 | CV2234062 | single nucleotide variant | NM_001384272.1(HCRTR2):c.743G>T (p.Arg248Leu) | not specified [RCV004106168] | uncertain significance | 6 | 55263803 | 55263803 | Human | | name |
| 155973358 | CV2320994 | single nucleotide variant | NM_001384272.1(HCRTR2):c.827G>A (p.Arg276Gln) | not specified [RCV004172790] | uncertain significance | 6 | 55277444 | 55277444 | Human | | name |
| 156343186 | CV2364075 | single nucleotide variant | NM_001384272.1(HCRTR2):c.509G>A (p.Arg170His) | not specified [RCV004221459] | uncertain significance | 6 | 55255242 | 55255242 | Human | | name |
| 155990006 | CV2371996 | single nucleotide variant | NM_001384272.1(HCRTR2):c.676T>G (p.Cys226Gly) | not specified [RCV004221671] | uncertain significance | 6 | 55263736 | 55263736 | Human | | name |
| 156261859 | CV2376839 | single nucleotide variant | NM_001384272.1(HCRTR2):c.964A>G (p.Ile322Val) | not specified [RCV004229542] | uncertain significance | 6 | 55277581 | 55277581 | Human | | name |
| 329366921 | CV2441978 | single nucleotide variant | NM_001384272.1(HCRTR2):c.778T>A (p.Ser260Thr) | not specified [RCV004262151] | uncertain significance | 6 | 55277395 | 55277395 | Human | | name |
| 329387652 | CV2446747 | single nucleotide variant | NM_001384272.1(HCRTR2):c.314T>C (p.Ile105Thr) | not specified [RCV004257620] | uncertain significance | 6 | 55248729 | 55248729 | Human | | name |
| 329389302 | CV2467255 | single nucleotide variant | NM_001384272.1(HCRTR2):c.602C>G (p.Ala201Gly) | not specified [RCV004285064] | uncertain significance | 6 | 55255335 | 55255335 | Human | | name |
| 401891115 | CV2769045 | single nucleotide variant | NM_001384272.1(HCRTR2):c.736A>G (p.Ile246Val) | not specified [RCV004348913] | uncertain significance | 6 | 55263796 | 55263796 | Human | | name |
| 401865153 | CV2791536 | single nucleotide variant | NM_001384272.1(HCRTR2):c.637C>T (p.Arg213Cys) | not specified [RCV004358913] | uncertain significance | 6 | 55255370 | 55255370 | Human | | name |
| 405276369 | CV3193391 | single nucleotide variant | NM_001384272.1(HCRTR2):c.922A>G (p.Ile308Val) | HCRTR2-related disorder [RCV003974558] | benign | 6 | 55277539 | 55277539 | Human | | name , trait , alternate_id |
| 405255777 | CV3210845 | single nucleotide variant | NM_001384272.1(HCRTR2):c.577T>A (p.Cys193Ser) | HCRTR2-related disorder [RCV003939351] | likely benign | 6 | 55255310 | 55255310 | Human | | name , trait , alternate_id |
| 597781554 | CV3679046 | single nucleotide variant | NM_001384272.1(HCRTR2):c.775T>A (p.Ser259Thr) | not specified [RCV004930926] | uncertain significance | 6 | 55277392 | 55277392 | Human | | name |
| 597710240 | CV3679047 | single nucleotide variant | NM_001384272.1(HCRTR2):c.830G>T (p.Gly277Val) | not specified [RCV004917435] | uncertain significance | 6 | 55277447 | 55277447 | Human | | name |
| 598266217 | CV3971627 | single nucleotide variant | NM_001384272.1(HCRTR2):c.826C>G (p.Arg276Gly) | not specified [RCV005349227] | uncertain significance | 6 | 55277443 | 55277443 | Human | | name |
| 155928292 | CV2363251 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1156G>C (p.Val386Leu) | not specified [RCV004213810] | uncertain significance | 6 | 55282275 | 55282275 | Human | | name |
| 401759252 | CV2708544 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1173G>C (p.Glu391Asp) | not specified [RCV004307540] | uncertain significance | 6 | 55282292 | 55282292 | Human | | name |
| 401887542 | CV2773495 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1228C>G (p.Gln410Glu) | not specified [RCV004354125] | uncertain significance | 6 | 55282347 | 55282347 | Human | | name |
| 401891097 | CV2778642 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1220T>G (p.Leu407Trp) | not specified [RCV004344286] | uncertain significance | 6 | 55282339 | 55282339 | Human | | name |
| 405790183 | CV3266406 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1234A>G (p.Ser412Gly) | not specified [RCV004399416] | uncertain significance | 6 | 55282353 | 55282353 | Human | | name |
| 405790187 | CV3266407 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1307A>G (p.Asn436Ser) | not specified [RCV004399417] | uncertain significance | 6 | 55282426 | 55282426 | Human | | name |
| 597781550 | CV3679044 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1184C>T (p.Thr395Ile) | not specified [RCV004930925] | uncertain significance | 6 | 55282303 | 55282303 | Human | | name |
| 598266198 | CV3971621 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1178G>A (p.Arg393Gln) | not specified [RCV005349222] | likely benign | 6 | 55282297 | 55282297 | Human | | name |
| 598266202 | CV3971622 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1172A>T (p.Glu391Val) | not specified [RCV005349223] | uncertain significance | 6 | 55282291 | 55282291 | Human | | name |
| 598266206 | CV3971623 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1103G>A (p.Ser368Asn) | not specified [RCV005349224] | uncertain significance | 6 | 55280442 | 55280442 | Human | | name |
| 598266214 | CV3971626 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1151T>A (p.Leu384His) | not specified [RCV005349226] | uncertain significance | 6 | 55282270 | 55282270 | Human | | name |
| 15187790 | CV722077 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1292C>A (p.Thr431Lys) | HCRTR2-related disorder [RCV003920683]|not provided [RCV000887350] | likely benign | 6 | 55282411 | 55282411 | Human | | name , trait , alternate_id |